Mutational analysis of MSX1 and PAX9 genes in Portuguese families with maxillary lateral incisor agenesis
Autor(a) principal: | |
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Data de Publicação: | 2010 |
Outros Autores: | , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/1822/67560 |
Resumo: | The observation that certain patterns of tooth agenesis occur more frequently in individuals of the same family may suggest the existence of predisposing genetic factors. The aim of this study was to search for mutations in the PAX9 and MSX1 genes and to investigate their potential association with the maxillary lateral incisor agenesis (MLIA) phenotype in 12 Portuguese families, a total of 52 individuals, 12 probands and 40 relatives (eight of which had MLIA). Twenty-three of the subjects were male and 29 female with an age range of 10-75 years. The control group comprised random DNA samples of 91 Portuguese individuals. Nucleotide alterations were not detected in the coding regions of the MSX1 gene, analysed by single-strand conformation polymorphism and sequencing; in the PAX9 gene, a polymorphism was found that led to transition of G718 to C, implying a change of alanine 240 for proline. However, the differences in the frequencies of the PAX9 gene polymorphism between the probands (67 per cent) and the control population (56 per cent carrying the c allele) were not statistically significant as determined by chi-square test, and the polymorphism did not clearly segregate with the trait in the families. Aggregating the available data, there does not seem to exist a clear association between the alanine 240 for proline variant in the PAX9 gene and the MLIA phenotype. Further studies are required to clarify the basic genetics of MLIA. |
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Mutational analysis of MSX1 and PAX9 genes in Portuguese families with maxillary lateral incisor agenesisAdolescentAdultAgedAnodontiaChi-Square DistributionChildDNA Mutational AnalysisFemaleHumansIncisorMSX1 Transcription FactorMaleMiddle AgedPAX9 Transcription FactorPedigreePolymorphism, Single NucleotidePortugalYoung AdultCiências Médicas::Medicina BásicaScience & TechnologyThe observation that certain patterns of tooth agenesis occur more frequently in individuals of the same family may suggest the existence of predisposing genetic factors. The aim of this study was to search for mutations in the PAX9 and MSX1 genes and to investigate their potential association with the maxillary lateral incisor agenesis (MLIA) phenotype in 12 Portuguese families, a total of 52 individuals, 12 probands and 40 relatives (eight of which had MLIA). Twenty-three of the subjects were male and 29 female with an age range of 10-75 years. The control group comprised random DNA samples of 91 Portuguese individuals. Nucleotide alterations were not detected in the coding regions of the MSX1 gene, analysed by single-strand conformation polymorphism and sequencing; in the PAX9 gene, a polymorphism was found that led to transition of G718 to C, implying a change of alanine 240 for proline. However, the differences in the frequencies of the PAX9 gene polymorphism between the probands (67 per cent) and the control population (56 per cent carrying the c allele) were not statistically significant as determined by chi-square test, and the polymorphism did not clearly segregate with the trait in the families. Aggregating the available data, there does not seem to exist a clear association between the alanine 240 for proline variant in the PAX9 gene and the MLIA phenotype. Further studies are required to clarify the basic genetics of MLIA.The authors would like to thank the families who participated in this study. We are grateful to Pedro Seada for technical support. TP was the recipient of a scholarship from Instituto Superior de Ciencias da Saude Norte/CESPU for her PhD and AS-F is the recipient of a scholarship from FCT (SFRH/BD/15910/2005).Oxford University PressUniversidade do MinhoPinho, TeresaSilva-Fernandes, AnabelaBousbaa, HassanMaciel, P.2010-102010-10-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/1822/67560engPinho, T., Silva-Fernandes, A., Bousbaa, H., & Maciel, P. (2010). Mutational analysis of MSX1 and PAX9 genes in Portuguese families with maxillary lateral incisor agenesis. The European Journal of Orthodontics, 32(5), 582-5880141-53871460-221010.1093/ejo/cjp15520660504https://academic.oup.com/ejo/article/32/5/582/561671info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-21T12:09:48Zoai:repositorium.sdum.uminho.pt:1822/67560Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T19:01:19.433150Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Mutational analysis of MSX1 and PAX9 genes in Portuguese families with maxillary lateral incisor agenesis |
title |
Mutational analysis of MSX1 and PAX9 genes in Portuguese families with maxillary lateral incisor agenesis |
spellingShingle |
Mutational analysis of MSX1 and PAX9 genes in Portuguese families with maxillary lateral incisor agenesis Pinho, Teresa Adolescent Adult Aged Anodontia Chi-Square Distribution Child DNA Mutational Analysis Female Humans Incisor MSX1 Transcription Factor Male Middle Aged PAX9 Transcription Factor Pedigree Polymorphism, Single Nucleotide Portugal Young Adult Ciências Médicas::Medicina Básica Science & Technology |
title_short |
Mutational analysis of MSX1 and PAX9 genes in Portuguese families with maxillary lateral incisor agenesis |
title_full |
Mutational analysis of MSX1 and PAX9 genes in Portuguese families with maxillary lateral incisor agenesis |
title_fullStr |
Mutational analysis of MSX1 and PAX9 genes in Portuguese families with maxillary lateral incisor agenesis |
title_full_unstemmed |
Mutational analysis of MSX1 and PAX9 genes in Portuguese families with maxillary lateral incisor agenesis |
title_sort |
Mutational analysis of MSX1 and PAX9 genes in Portuguese families with maxillary lateral incisor agenesis |
author |
Pinho, Teresa |
author_facet |
Pinho, Teresa Silva-Fernandes, Anabela Bousbaa, Hassan Maciel, P. |
author_role |
author |
author2 |
Silva-Fernandes, Anabela Bousbaa, Hassan Maciel, P. |
author2_role |
author author author |
dc.contributor.none.fl_str_mv |
Universidade do Minho |
dc.contributor.author.fl_str_mv |
Pinho, Teresa Silva-Fernandes, Anabela Bousbaa, Hassan Maciel, P. |
dc.subject.por.fl_str_mv |
Adolescent Adult Aged Anodontia Chi-Square Distribution Child DNA Mutational Analysis Female Humans Incisor MSX1 Transcription Factor Male Middle Aged PAX9 Transcription Factor Pedigree Polymorphism, Single Nucleotide Portugal Young Adult Ciências Médicas::Medicina Básica Science & Technology |
topic |
Adolescent Adult Aged Anodontia Chi-Square Distribution Child DNA Mutational Analysis Female Humans Incisor MSX1 Transcription Factor Male Middle Aged PAX9 Transcription Factor Pedigree Polymorphism, Single Nucleotide Portugal Young Adult Ciências Médicas::Medicina Básica Science & Technology |
description |
The observation that certain patterns of tooth agenesis occur more frequently in individuals of the same family may suggest the existence of predisposing genetic factors. The aim of this study was to search for mutations in the PAX9 and MSX1 genes and to investigate their potential association with the maxillary lateral incisor agenesis (MLIA) phenotype in 12 Portuguese families, a total of 52 individuals, 12 probands and 40 relatives (eight of which had MLIA). Twenty-three of the subjects were male and 29 female with an age range of 10-75 years. The control group comprised random DNA samples of 91 Portuguese individuals. Nucleotide alterations were not detected in the coding regions of the MSX1 gene, analysed by single-strand conformation polymorphism and sequencing; in the PAX9 gene, a polymorphism was found that led to transition of G718 to C, implying a change of alanine 240 for proline. However, the differences in the frequencies of the PAX9 gene polymorphism between the probands (67 per cent) and the control population (56 per cent carrying the c allele) were not statistically significant as determined by chi-square test, and the polymorphism did not clearly segregate with the trait in the families. Aggregating the available data, there does not seem to exist a clear association between the alanine 240 for proline variant in the PAX9 gene and the MLIA phenotype. Further studies are required to clarify the basic genetics of MLIA. |
publishDate |
2010 |
dc.date.none.fl_str_mv |
2010-10 2010-10-01T00:00:00Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/1822/67560 |
url |
http://hdl.handle.net/1822/67560 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Pinho, T., Silva-Fernandes, A., Bousbaa, H., & Maciel, P. (2010). Mutational analysis of MSX1 and PAX9 genes in Portuguese families with maxillary lateral incisor agenesis. The European Journal of Orthodontics, 32(5), 582-588 0141-5387 1460-2210 10.1093/ejo/cjp155 20660504 https://academic.oup.com/ejo/article/32/5/582/561671 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Oxford University Press |
publisher.none.fl_str_mv |
Oxford University Press |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1799132411921956864 |